Genetic alterations of DNA methylation machinery in human diseases (Q38459846)

3 September 2017

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title

Genetic alterations of DNA methylation machinery in human diseases (English)

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3 September 2017

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Tewfik Hamidi

1

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PubMed ID

25942534

3 September 2017

Anup Kumar Singh

series ordinal

2

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PubMed ID

25942534

3 September 2017

Taiping Chen

series ordinal

3

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3 September 2017

1 January 2015

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3 September 2017

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3 September 2017

7

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3 September 2017

247-265

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3 September 2017

2

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DNA methylation: roles in mammalian development

3 September 2017

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DNA methylation profiling in the clinic: applications and challenges

21 January 2018

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DNA methyltransferases: a novel target for prevention and therapy

21 January 2018

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Cancer epigenetics: tumor heterogeneity, plasticity of stem-like states, and drug resistance.

21 January 2018

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Dnmt3L and the establishment of maternal genomic imprints.

21 January 2018

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Dnmt3L antagonizes DNA methylation at bivalent promoters and favors DNA methylation at gene bodies in ESCs

21 January 2018

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The PWWP domain of Dnmt3a and Dnmt3b is required for directing DNA methylation to the major satellite repeats at pericentric heterochromatin

21 January 2018

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Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain

21 January 2018

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DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA

21 January 2018

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Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1

21 January 2018

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TETonic shift: biological roles of TET proteins in DNA demethylation and transcription

21 January 2018

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Reversing DNA methylation: mechanisms, genomics, and biological functions

21 January 2018

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Tet family of 5-methylcytosine dioxygenases in mammalian development

21 January 2018

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Genomic DNA methylation: the mark and its mediators

21 January 2018

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A family of human zinc finger proteins that bind methylated DNA and repress transcription

21 January 2018

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ZBTB33 binds unmethylated regions of the genome associated with actively expressed genes

21 January 2018

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In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

21 January 2018

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UHRF1 plays a role in maintaining DNA methylation in mammalian cells

21 January 2018

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The SRA protein Np95 mediates epigenetic inheritance by recruiting Dnmt1 to methylated DNA

21 January 2018

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Mbd3/NURD complex regulates expression of 5-hydroxymethylcytosine marked genes in embryonic stem cells

21 January 2018

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MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.

21 January 2018

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Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives.

21 January 2018

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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

21 January 2018

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Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

21 January 2018

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DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

21 January 2018

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Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.

21 January 2018

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Structural insight into maintenance methylation by mouse DNA methyltransferase 1 (Dnmt1)

21 January 2018

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Reduced RAN expression and disrupted transport between cytoplasm and nucleus; a key event in Alzheimer's disease pathophysiology

21 January 2018

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DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation

21 January 2018

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DNMT3A Mutations in Acute Myeloid Leukemia

21 January 2018

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Array-based genomic resequencing of human leukemia

21 January 2018

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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

21 January 2018

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DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies

21 January 2018

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Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia

21 January 2018

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A DNMT3A mutation common in AML exhibits dominant-negative effects in murine ES cells

21 January 2018

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The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers

21 January 2018

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DNMT3A Arg882 mutation drives chronic myelomonocytic leukemia through disturbing gene expression/DNA methylation in hematopoietic cells

21 January 2018

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DNA methylation signatures identify biologically distinct subtypes in acute myeloid leukemia.

21 January 2018

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Dnmt3a is essential for hematopoietic stem cell differentiation

21 January 2018

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

21 January 2018

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DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

21 January 2018

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ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation

21 January 2018

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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

21 January 2018

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Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

21 January 2018

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The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

21 January 2018

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Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases

21 January 2018

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ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation

21 January 2018

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Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

21 January 2018

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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

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A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

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Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

21 January 2018

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

21 January 2018

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

21 January 2018

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POK/ZBTB proteins: an emerging family of proteins that regulate lymphoid development and function

21 January 2018

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Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.

21 January 2018

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Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

21 January 2018

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Chromosome territory reorganization in a human disease with altered DNA methylation

21 January 2018

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TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23).

21 January 2018

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Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations

21 January 2018

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Involvement of MLL gene in a t(10;11)(q22;q23) and a t(8;11)(q24;q23) identified by fluorescence in situ hybridization.

21 January 2018

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A study on 289 consecutive Korean patients with acute leukaemias revealed fluorescence in situ hybridization detects the MLL translocation without cytogenetic evidence both initially and during follow-up.

21 January 2018

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The MLL recombinome of adult CD10-negative B-cell precursor acute lymphoblastic leukemia: results from the GMALL study group.

21 January 2018

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New insights to the MLL recombinome of acute leukemias

21 January 2018

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Genomic breakpoints and clinical features of MLL-TET1 rearrangement in acute leukemias.

21 January 2018

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First description of the t(10;11)(q22;q23)/MLL-TET1 translocation in a T-cell lymphoblastic lymphoma, with subsequent lineage switch to acute myelomonocytic myeloid leukemia

21 January 2018

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5-Hydroxymethylcytosine is strongly depleted in human cancers but its levels do not correlate with IDH1 mutations

21 January 2018

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Nuclear exclusion of TET1 is associated with loss of 5-hydroxymethylcytosine in IDH1 wild-type gliomas

21 January 2018

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Tumor development is associated with decrease of TET gene expression and 5-methylcytosine hydroxylation

21 January 2018

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TET1 plays an essential oncogenic role in MLL-rearranged leukemia

21 January 2018

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The role of mutations in epigenetic regulators in myeloid malignancies

21 January 2018

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TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis

21 January 2018

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Alterations of 5-hydroxymethylcytosine in human cancers

21 January 2018

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Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2

21 January 2018

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Metabolism unhinged: IDH mutations in cancer.

21 January 2018

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Effects of TET2 mutations on DNA methylation in chronic myelomonocytic leukemia

21 January 2018

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TET2 plays an essential role in erythropoiesis by regulating lineage-specific genes via DNA oxidative demethylation in a zebrafish model

21 January 2018

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Acquired mutations in TET2 are common in myelodysplastic syndromes

21 January 2018

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Recurrent R-spondin fusions in colon cancer

21 January 2018

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

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Early onset seizures and Rett-like features associated with mutations in CDKL5.

21 January 2018

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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

21 January 2018

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Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

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Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

21 January 2018

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Experimental models of Rett syndrome based on Mecp2 dysfunction.

21 January 2018

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

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Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

21 January 2018

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Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

21 January 2018

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Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

21 January 2018

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

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Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

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Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

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Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

21 January 2018

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Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice.

21 January 2018

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

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Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2.

21 January 2018

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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

21 January 2018

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Differential regulation of MeCP2 phosphorylation in the CNS by dopamine and serotonin

21 January 2018

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Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation

21 January 2018

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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

21 January 2018

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MeCP2 Rett mutations affect large scale chromatin organization.

21 January 2018

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

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DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

21 January 2018

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Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

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Neurotrophins: roles in neuronal development and function

21 January 2018

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A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.

21 January 2018

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21 January 2018

Identifiers

DOI

10.2217/EPI.14.80

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3 September 2017

1 reference

PubMed ID

25942534